A rare case of Mayer–Rokitansky–Kuster–Hauser syndrome with right ectopic kidney diagnosed on MRI

Abstract

Introduction Meyer–Rokitansky–Küster–Hauser syndrome is rare congenital abnormality in females with a blind ending vagina. There can be associated hypoplasia of uterus. The syndrome is of sporadic origin and affects the reproductive life. Adequate and early diagnosis can help to rule out other associated anomalies. Case presentation We are presenting an interesting case of Mullerian agenesis in a 16-year-old female patient who came to our gynecology department of our hospital with complaints of primary amenorrhea. On imaging, it was found that she was a case of Mayer–Rokitansky–Küster–Hauser syndrome with ectopic kidney. On physical examination, affected individuals appear normal but there was agenesis of uterus which is the common cause of primary amenorrhea. Magnetic resonance imaging findings are discussed in this article. On karyotyping and hormonal evaluation, patient hormones were in range and karyotype was 46, XX. Conclusion MRI is mainstay for diagnosis of this condition although other modalities like ultrasound can diagnose hypoplastic uterus and ectopic kidney. A rudimentary uterus hampers the reproductive functioning, and patient needs counseling for the same.

Atypical form of Mayer-Rokitansky-Küster-Hauser syndrome: A case report

“…One of the characteristics of female patients with MRKH syndrome is the presence of ectopic ovaries with underdeveloped uterus. This is often mistaken to mean that patients with MRKH syndrome do not have a uterus at all [8] . In this patient the uterine organs developed abnormally which required a uterine transplant.…”

“…Laparoscopic technique with the help intraoperative ultrasound can help establish the diagnosis. Magnetic resonance imaging (MRI) is the only modality that is noninvasive and has good sensitivity and specificity in making the diagnosis of MRKH [8] .…”

A Rare Case of Mullerian Agenesis (Mayer-Rokitansky-Kuster-Hauser Syndrome)

“…Our diagnosis was clinical and confirmed by ultrasound and MRI of pelvis. These two modalities are reported to be the gold standard for diagnosis of MRKHS 9 . On MRI, there was hypo plastic uterus (0.7x2.6x1, 4 cm) as shown in Figure 2.…”